About the NR2F1 Gene
The NR2F1 gene (also called COUP-TF1), located at 5q15, encodes for a conserved orphan nuclear receptor protein and transcriptional regulator that plays a role in cortical patterning, neurogenesis, guidance of thalamocortical axons, arborization, and neurodevelopment of the eye and optic nerve. NR2F1 works as a homodimer and contains a DNA-binding domain (DBD) formed by two zinc-finger domains as well as a ligand-binding domain (LBD). Loss-of-function variants in NR2F1 are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome, a neurodevelopmental disorder.
Additional Helpful Information
Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome: https://documentcloud.adobe.com/link/track?uri=urn:aaid:scds:US:11a0c5bb-dab4-4549-a37b-83fbab981613
The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease: https://documentcloud.adobe.com/link/track?uri=urn:aaid:scds:US:3d282e58-13a0-443b-91c8-83088a890ff9
COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas: https://documentcloud.adobe.com/link/track?uri=urn:aaid:scds:US:4f03590d-e84c-4882-9c63-70dcff19a3b6
Intrinsic neuronal excitability and spontaneous activity underlie cortical abnormalities upon Nr2f1/COUP-TFI deficiency: https://documentcloud.adobe.com/link/track?uri=urn:aaid:scds:US:4a29262e-68ab-4c3d-b3b1-9d114e0ac587
Interacting Protiens for the NR2F1 Gene
